Canonical Allele Identifier: CA375046337

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303392A>C (hg19) ; chr9:g.128541113A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541113A>C , CM000671.2:g.128541113A>C	GRCh38
NC_000009.11:g.131303392A>C , CM000671.1:g.131303392A>C	GRCh37
NC_000009.10:g.130343213A>C	NCBI36
NG_012073.1:g.41422A>C , LRG_484:g.41422A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1111A>C	ENSP00000507095.1:n.*1111A>C
ENST00000683288.1:c.*2039A>C	ENSP00000507477.1:n.*2039A>C
ENST00000683748.1:c.2067A>C	ENSP00000507377.1:p.Gln689His
ENST00000683905.1:c.*716A>C	ENSP00000506960.1:n.*716A>C
ENST00000684139.1:c.1575A>C	ENSP00000507295.1:p.Gln525His
ENST00000684210.1:n.1753A>C
ENST00000684314.1:c.1935A>C	ENSP00000507700.1:p.Gln645His
ENST00000684331.1:c.*760A>C	ENSP00000507431.1:n.*760A>C
ENST00000684463.1:n.678A>C
ENST00000684646.1:c.1827A>C	ENSP00000507723.1:p.Gln609His
ENST00000309971.9:c.2040A>C MANE Select	ENSP00000308622.5:p.Gln680His
ENST00000309971.8:c.2040A>C	ENSP00000308622.4:p.Gln680His
NM_001003722.1:c.2040A>C , LRG_484t1:c.2040A>C	NP_001003722.1:p.Gln680His
XM_006717059.2:c.2076A>C	XP_006717122.1:p.Gln692His
XM_006717060.2:c.2049A>C	XP_006717123.1:p.Gln683His
XM_011518549.1:c.2076A>C	XP_011516851.1:p.Gln692His
XM_011518550.1:c.2076A>C	XP_011516852.1:p.Gln692His
XM_011518551.1:c.2067A>C	XP_011516853.1:p.Gln689His
XM_011518552.1:c.1317A>C	XP_011516854.1:p.Gln439His
XR_242681.3:n.100+2266T>G
XM_006717059.3:c.2076A>C	XP_006717122.1:p.Gln692His
XM_006717060.3:c.2049A>C	XP_006717123.1:p.Gln683His
XM_011518551.2:c.2067A>C	XP_011516853.1:p.Gln689His
XM_024447519.1:c.2049A>C	XP_024303287.1:p.Gln683His
NM_001003722.2:c.2040A>C MANE Select	NP_001003722.1:p.Gln680His